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Human Disease

X-linked myopathy with excessive autophagy

Term ID
DOID:0050760
Synonyms
  • XMEA
Definition
A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28. https://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/
References
Ontology
Human Disease   ( DOID:0050760 )
Relationships
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Genes Involved
Zebrafish Models